This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in... See more...

Aliases for KCNU1 Gene

Aliases for KCNU1 Gene

  • Potassium Calcium-Activated Channel Subfamily U Member 1 2 3 5
  • KCNMC1 2 3 4
  • Calcium-Activated Potassium Channel, Subfamily M Subunit Alpha-3 3 4
  • Calcium-Activated Potassium Channel Subunit Alpha-3 3 4
  • Potassium Channel, Subfamily U, Member 1 2 3
  • Potassium Channel Subfamily U Member 1 3 4
  • Slowpoke Homolog 3 3 4
  • KCa5.1 2 3
  • Kcnma3 2 3
  • KCa5 3 4
  • Slo3 2 3
  • KCNMA3 4
  • KCNU1 5
  • SLO3 4

External Ids for KCNU1 Gene

Previous GeneCards Identifiers for KCNU1 Gene

  • GC08U990155
  • GC08P036761
  • GC08P036641
  • GC08P035176

Summaries for KCNU1 Gene

Entrez Gene Summary for KCNU1 Gene

  • This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for KCNU1 Gene

KCNU1 (Potassium Calcium-Activated Channel Subfamily U Member 1) is a Protein Coding gene. Diseases associated with KCNU1 include Progressive Myoclonus Epilepsy 8 and Progressive Myoclonus Epilepsy 9. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNMA1.

UniProtKB/Swiss-Prot Summary for KCNU1 Gene

  • Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina.

Tocris Summary for KCNU1 Gene

  • Calcium (Ca2+) -activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes: SK, IK and BK channels (small, intermediate and big conductance).

Gene Wiki entry for KCNU1 Gene

Additional gene information for KCNU1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNU1 Gene

Genomics for KCNU1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNU1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J036784 Promoter 0.3 EPDnew 600.7 +0.1 53 0.1 KCNU1 MRPS7P1 ZNF703
GH08J036995 Enhancer 0.6 Ensembl 18.5 +211.8 211777 2.2 JUND ZBTB48 FOS GABPA ZBTB17 FOSL1 NFIC STAT1 RCOR1 TCF7L2 KCNU1 RPL26P25 ENSG00000254038 ZNF703
GH08J036950 Enhancer 0.6 Ensembl ENCODE 14.4 +166.2 166177 1.4 USF1 ZBTB17 ZNF335 MAFK EBF1 SMARCA4 KCNU1 ENSG00000254038 LOC105379375 lnc-BRF2-13 ZNF703
GH08J036981 Enhancer 0.4 Ensembl 18.3 +197.4 197377 0.6 POLR2A ZSCAN5C SIN3A LOC105379376 lnc-BRF2-13 KCNU1 LOC105379375 ZNF703
GH08J036915 Enhancer 0.4 Ensembl 14.6 +131.0 130977 1 CEBPB ZEB1 FOS ZBTB21 KCNU1 ENSG00000254038 ZNF703 piR-43325-090 LOC105379375 piR-43164-069
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNU1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNU1

Top Transcription factor binding sites by QIAGEN in the KCNU1 gene promoter:
  • Evi-1
  • Gfi-1
  • ISGF-3
  • Nkx2-5
  • POU3F2
  • RFX1

Genomic Locations for KCNU1 Gene

Genomic Locations for KCNU1 Gene
chr8:36,784,324-36,936,125
(GRCh38/hg38)
Size:
151,802 bases
Orientation:
Plus strand
chr8:36,641,842-36,793,646
(GRCh37/hg19)
Size:
151,805 bases
Orientation:
Plus strand

Genomic View for KCNU1 Gene

Genes around KCNU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNU1 Gene

Proteins for KCNU1 Gene

  • Protein details for KCNU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MYU2-KCNU1_HUMAN
    Recommended name:
    Potassium channel subfamily U member 1
    Protein Accession:
    A8MYU2

    Protein attributes for KCNU1 Gene

    Size:
    1149 amino acids
    Molecular mass:
    129543 Da
    Quaternary structure:
    • Homotetramer; which constitutes the calcium-activated potassium channel. May interact with LRRC52; this interaction may change channel gating properties, such as shifting gating to more negative potentials at a given pH.

    Three dimensional structures from OCA and Proteopedia for KCNU1 Gene

neXtProt entry for KCNU1 Gene

Post-translational modifications for KCNU1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNU1 Gene

Domains & Families for KCNU1 Gene

Gene Families for KCNU1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KCNU1 Gene

Suggested Antigen Peptide Sequences for KCNU1 Gene

GenScript: Design optimal peptide antigens:
  • Slowpoke homolog 3 (KCNU1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A8MYU2

UniProtKB/Swiss-Prot:

KCNU1_HUMAN :
  • The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily.
Domain:
  • The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
  • The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium (By similarity).
  • The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel.
  • The C-terminal cytosolic region confers the pH-dependence.
Family:
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa5.1/KCNU1 sub-subfamily.
genes like me logo Genes that share domains with KCNU1: view

Function for KCNU1 Gene

Molecular function for KCNU1 Gene

UniProtKB/Swiss-Prot Function:
Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina.

Phenotypes From GWAS Catalog for KCNU1 Gene

Gene Ontology (GO) - Molecular Function for KCNU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005267 potassium channel activity IEA --
GO:0015269 NOT calcium-activated potassium channel activity IBA 21873635
GO:0060072 large conductance calcium-activated potassium channel activity IBA 21873635
genes like me logo Genes that share ontologies with KCNU1: view
genes like me logo Genes that share phenotypes with KCNU1: view

Animal Models for KCNU1 Gene

MGI Knock Outs for KCNU1:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNU1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNU1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for KCNU1 Gene

Localization for KCNU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNU1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNU1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNU1: view

Pathways & Interactions for KCNU1 Gene

PathCards logo

SuperPathways for KCNU1 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Fertilization
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCNU1: view

Pathways by source for KCNU1 Gene

13 Qiagen pathways for KCNU1 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Interacting Proteins for KCNU1 Gene

Gene Ontology (GO) - Biological Process for KCNU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0022414 reproductive process IBA 21873635
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNU1: view

No data available for SIGNOR curated interactions for KCNU1 Gene

Drugs & Compounds for KCNU1 Gene

(10) Drugs for KCNU1 Gene - From: DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tetraethylammonium Experimental, Investigational Pharma Inhibitor, Pore Blocker, Antagonist, Inhibition 1
Charybdotoxin Pharma Pore Blocker, Inhibitor, Inhibition, blocker 0
Iberiotoxin Pharma Inhibitor 0
NS004 Pharma Activator, Potentiation 0
NS1619 Pharma Activator 0

(4) Tocris Compounds for KCNU1 Gene

Compound Action Cas Number
1-EBIO Activator of epithelial KCa channels 10045-45-1
BMS 191011 Potent BKCa (KCa1.1) channel opener 202821-81-6
CyPPA Activator of KCa2.2 and KCa2.3 channels 73029-73-9
SKA 31 Activator of KCa3.1 and KCa2 channels 40172-65-4
genes like me logo Genes that share compounds with KCNU1: view

Transcripts for KCNU1 Gene

mRNA/cDNA for KCNU1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNU1

Alternative Splicing Database (ASD) splice patterns (SP) for KCNU1 Gene

No ASD Table

Relevant External Links for KCNU1 Gene

GeneLoc Exon Structure for
KCNU1

Expression for KCNU1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for KCNU1 Gene

This gene is overexpressed in Testis (x47.9).

Protein differential expression in normal tissues from HIPED for KCNU1 Gene

This gene is overexpressed in Liver, secretome (52.0) and Neutrophil (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNU1 Gene



Protein tissue co-expression partners for KCNU1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNU1

SOURCE GeneReport for Unigene cluster for KCNU1 Gene:

Hs.13861

mRNA Expression by UniProt/SwissProt for KCNU1 Gene:

A8MYU2-KCNU1_HUMAN
Tissue specificity: Testis-specific.
genes like me logo Genes that share expression patterns with KCNU1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNU1 Gene

Orthologs for KCNU1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNU1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNU1 30 31
  • 99.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNU1 30 31
  • 81.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNU1 30 31
  • 77.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnu1 30
  • 75.46 (n)
Mouse
(Mus musculus)
Mammalia Kcnu1 30 17 31
  • 74.45 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNU1 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857499 30
  • 58.2 (n)
KCNU1 31
  • 44 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNU1 31
  • 46 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii KCNU1 31
  • 39 (a)
OneToOne
Species where no ortholog for KCNU1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KCNU1 Gene

ENSEMBL:
Gene Tree for KCNU1 (if available)
TreeFam:
Gene Tree for KCNU1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNU1: view image

Paralogs for KCNU1 Gene

Paralogs for KCNU1 Gene

(1) SIMAP similar genes for KCNU1 Gene using alignment to 5 proteins:

  • KCNU1_HUMAN
  • E5RGP7_HUMAN
  • E5RHP1_HUMAN
  • E5RJA6_HUMAN
  • E5RK72_HUMAN
genes like me logo Genes that share paralogs with KCNU1: view

Variants for KCNU1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNU1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
732415 Benign: not provided 36,922,624(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
769339 Benign: not provided 36,922,620(+) G/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
772902 Benign: not provided 36,931,139(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
776315 Benign: not provided 36,815,682(+) A/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
776316 Benign: not provided 36,836,864(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KCNU1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCNU1 Gene

Variant ID Type Subtype PubMed ID
esv2736881 CNV deletion 23290073
esv3572673 CNV loss 25503493
esv992767 CNV insertion 20482838
nsv831288 CNV gain 17160897

Variation tolerance for KCNU1 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.69; 95.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNU1 Gene

Human Gene Mutation Database (HGMD)
KCNU1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNU1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNU1 Gene

Disorders for KCNU1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCNU1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search KCNU1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCNU1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KCNU1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNU1 Gene

Publications for KCNU1 Gene

  1. Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel. (PMID: 23129643) Leonetti MD … Mackinnon R (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4
  4. International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. (PMID: 16382103) Wei AD … Wulff H (Pharmacological reviews 2005) 2 3
  5. Slo3, a novel pH-sensitive K+ channel from mammalian spermatocytes. (PMID: 9452476) Schreiber M … Salkoff L (The Journal of biological chemistry 1998) 3 4

Products for KCNU1 Gene

Sources for KCNU1 Gene